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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
PEG10 - Paternally Expressed 10
Alias:
EDR
HB-1
Mar2
RTL2
MEF3L
Mart2
RGAG3
SIRH1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这是一个通过Ty3/Gypsy家族反转座子衍生而来的、在父源表达中受到印记的基因。它包含两个重叠的开放阅读框RF1和RF2,并表达两种蛋白质:从RF1中产生的较短的类似gag的蛋白质(具有CCHC型锌指结构域);以及从RF1/RF2中产生的较长的类似gag/pol的融合蛋白质(具有额外的天冬氨酸蛋白酶基序),通过-1翻译移码(-1 FS)实现。虽然-1 FS已经在原核生物和真核生物中的RNA病毒和反转座子中被观察到,但这个基因是第一个在真核细胞基因中观察到-1 FS的例子。这个基因在哺乳动物物种中高度保守,并保留了-1 FS所需的七核苷酸(GGGAAAC)和假结结构。它在成年和胚胎组织中表达(最显著的是在胎盘中),据报道在细胞增殖、分化和凋亡中具有作用。这个基因的过度表达与几种恶性肿瘤有关,如肝细胞癌和B细胞淋巴细胞白血病。缺乏这个基因的敲除小鼠表现出早期胚胎死亡和胎盘缺陷,表明这个基因在胚胎发育中的重要性。已经报道了这个基因的额外异构体,通过可选的剪接转录变异体以及使用上游的非AUG(CUG)起始密码子。[由RefSeq,2014年10月提供]
Related ID:
NCBI:23089
ENSEMBL:ENSG00000242265
HGNC:14005
UNIPROT:Q86TG7
OMIM:609810
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Related Mouse Models
Reference
23089
6
2
13371 bp
80.17
11
--
2
26
PEG10 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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